| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Dystonia, limb
Cognitive impairment Intellectual developmental disorder Tremor, action Bradykinesia Parkinsonism Delayed motor development Postural instability Lower limb dystonia Tremor (any or unspecified) Short stature Developmental regression Decreased body weight Dystonia/Parkinsonism Dystonia (any or unspecified) Developmental delay Upper limb dystonia Dystonia, segmental/multifocal Myoclonus Hypotonia Rigidity Show more (+18) |
Developmental delay
Myoclonus |